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| Gene | ATRX |
| Variant | R2153C |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATRX R2153C lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). R2153C has been identified in sequencing studies (PMID: 22869205, PMID: 28423505), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATRX mutant ATRX R2153C |
| Transcript | NM_000489.6 |
| gDNA | chrX:g.77558716G>A |
| cDNA | c.6457C>T |
| Protein | p.R2153C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000489 | chrX:g.77558716G>A | c.6457C>T | p.R2153C | RefSeq | GRCh38/hg38 |
| NM_000489.4 | chrX:g.77558716G>A | c.6457C>T | p.R2153C | RefSeq | GRCh38/hg38 |
| NM_000489.6 | chrX:g.77558716G>A | c.6457C>T | p.R2153C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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